Getting to know Next Generation Sequencing

May 25th, 2017

Next Generation Sequencing (NGS), which is becoming more widely known as Comprehensive Genomic Profiling by Massively Parallel Sequencing (CGP), will significantly contribute to targeted therapies and precision medicine. We provide a brief snapshot of what NGS/CGP is, how it works, where it is being used, the potential difficulties and what’s on the horizon.

What is Next Generation Sequencing?

Next Generation Sequencing (NGS) is becoming more widely known as Comprehensive Genomic Profiling by Massively Parallel Sequencing (CGP)

NGS/CGP testing will significantly contribute to targeted therapy

Multiple genes are analysed simultaneously so there is the potential to detect all mutations in a patient specimen

The four steps of NGS/CGP are:

DNA extraction

Library prep

DNA sequencing

Bioinformatics

A machine reads the DNA and provides a sequence of bases. Sequences from patient samples are compared to known references

Where is NGS/CGP being incorporated?

NGS/CGP uses the same methodology to screen for a variety of cancer genes (a panel)

NGS/CGP is being adopted for NSCLC due to the complexity of the driver and resistance mutation tied to therapy options (Figure 1)

EGFR and ALK, along with ROS1 and MET, are commonly part of lung NGS/CGP cancer panels

Some laboratories do not include ALK in panels as they have a more cost-efficient test validated for ALK

Figure 2. NGS market share of top 20 NGS somatic mutation panel offering laboratories. (*Market share is based on a blended mix of Medicare datasets of different biomarkers performed by NGS.)

Difficulties associated with NGS/CGP

Turnaround times are lengthy as NGS/CGP is a more complex and labour intensive methodology compared with single gene tests and may exceed the therapeutic window, e.g., in AML

NGS/CGP diffusion is currently limited to key cancer and reference labs

Reflex strategy may be required to account for low quality or quantity of DNA

Coverage of sequencing panels still varies between insurers and may be restricted

What’s coming up?

The requirement for BRAF testing and sequencing of other genes in the test panel will be a major driver for the adoption of NGS/CGP

Platform suppliers and the FDA are striving for NGS to become part of therapeutic labels

Leading pharma and diagnostic companies will embrace NGS/CGP to address key treatment and support their own pipeline and strategic goals

Webinars & Podcasts

August 9th, 2018

Podcast: Oncology Patient Research

Why do we need to talk biomarkers with patients? Senior Director of Market Research at Diaceutics, Marianne Fillion, recently spearheaded an effort to gather insights directly from oncology patients to get an understanding of what they know about ...

Publications

Thought leaders at Diaceutics recently authored a peer-reviewed article that covers the ongoing national debate over diagnostics reform legislation in the United States. The article is now available online ahead of print in the Journal of Molecula...

BRAF mutation testing in melanoma: a study including Austria, Germany and UK, highlighting concordance for current technologies, and potential requirement of more sensitive technologies in future applications.